eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| juvenile xanthogranuloma | ||||
| Disease ID | 538 |
|---|---|
| Disease | juvenile xanthogranuloma |
| Definition | Benign disorder of infants and children caused by proliferation of HISTIOCYTES, macrophages found in tissues. These histiocytes, usually lipid-laden non-Langerhans cells, form multiple yellow-red nodules most often in the skin, the eye, and sometimes in the viscera. Patients appear to have normal lipid metabolism and are classified as a normolipemic non-Langerhans cell histiocytosis. |
| Synonym | congenital xanthoma tuberosum juvenile giant cell granuloma juvenile xanthogranuloma (disorder) juvenile xanthogranulomas juvenile xanthoma juvenile xanthomas jxg jxg - juvenile xanthogranuloma multiple eruptive juvenile xanthogranuloma multiple eruptive juvenile xanthogranuloma (disorder) multiple eruptive xanthoma in infancy naevoxanthoendothelioma naevoxanthoendothelioma (disorder) nevoxanthoendothelioma nevoxanthoendotheliomas xanthogranuloma juvenile xanthogranuloma, juvenile xanthogranuloma, juvenile [disease/finding] xanthogranulomas, juvenile xanthoma naeviforme xanthoma neviforme xanthoma, juvenile xanthomas, juvenile |
| Orphanet | |
| DOID | |
| UMLS | C0043324 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0085113 | neurofibromatosis | 2 C0029134 | optic neuritis | 1 C0024301 | follicular lymphoma | 1 C0020581 | hyphema | 1 C0035305 | retinal detachment | 1 C0024299 | lymphoma | 1 C0086543 | cataracts | 1 C1527390 | intracranial tumor | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:30) 369 | ARAF | 2.26 | DISEASES 9332 | CD163 | 3.97 | DISEASES 910 | CD1B | 3.098 | DISEASES 911 | CD1C | 2.211 | DISEASES 50489 | CD207 | 3.669 | DISEASES 1508 | CTSB | 2.076 | DISEASES 2053 | EPHX2 | 1.869 | DISEASES 4303 | FOXO4 | 1.639 | DISEASES 6624 | FSCN1 | 3.498 | DISEASES 2526 | FUT4 | 1.607 | DISEASES 26762 | HAVCR1 | 3.26 | DISEASES 3119 | HLA-DQB1 | 1.103 | DISEASES 3347 | HTN3 | 1.914 | DISEASES 3563 | IL3RA | 1.291 | DISEASES 23210 | JMJD6 | 1.87 | DISEASES 5609 | MAP2K7 | 1.082 | DISEASES 79104 | MEG8 | 1.708 | DISEASES 4763 | NF1 | 3.745 | DISEASES 4771 | NF2 | 1.655 | DISEASES 5236 | PGM1 | 3.302 | DISEASES 9842 | PLEKHM1 | 3.251 | DISEASES 6490 | PMEL | 1.138 | DISEASES 5573 | PRKAR1A | 1.547 | DISEASES 5781 | PTPN11 | 3.133 | DISEASES 5788 | PTPRC | 2.004 | DISEASES 6280 | S100A9 | 4.331 | DISEASES 5265 | SERPINA1 | 2.353 | DISEASES 12 | SERPINA3 | 2.846 | DISEASES 6693 | SPN | 1.032 | DISEASES 7170 | TPM3 | 1.919 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 538 |
|---|---|
| Disease | juvenile xanthogranuloma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0011830 | Abnormality of oral mucosa HP:0005547 | Myeloproliferative disorder HP:0000520 | Proptosis HP:0000554 | Uveitis HP:0000572 | Visual loss HP:0000498 | Blepharitis HP:0001101 | Iritis HP:0002086 | Abnormality of the respiratory system HP:0200064 | Asymmetry of iris pigmentation HP:0007565 | Multiple cafe-au-lait spots HP:0000501 | Glaucoma HP:0011886 | Hyphema |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0001067 | Neurofibromas | 2 HP:0000541 | Detached retina | 1 HP:0000518 | Cataract | 1 HP:0030049 | Brain abscess | 1 HP:0011886 | Hyphema | 1 HP:0002665 | Lymphoma | 1 HP:0100653 | Optic neuritis | 1 |
| Disease ID | 538 |
|---|---|
| Disease | juvenile xanthogranuloma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002086 | Abnormality of the respiratory system | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
| HP:0000572 | Visual loss | MP:0011352 | proximal convoluted tubule brush border loss | attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000572 | Visual loss | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| HP:0000554 | Uveitis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0001101 | Iritis | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0011830 | Abnormality of oral mucosa | MP:0002169 | no abnormal phenotype detected | normal viability, fertility, appearance and behavior; reported phenotype is indistinguishable from controls |
| HP:0011886 | Hyphema | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0005547 | Myeloproliferative disorder | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000498 | Blepharitis | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000501 | Glaucoma | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0007565 | Multiple cafe-au-lait spots | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0002086 | Abnormality of the respiratory system | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| Disease ID | 538 |
|---|---|
| Disease | juvenile xanthogranuloma |
| Case | (Waiting for update.) |